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NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 13, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004019767.1

Allele description [Variation Report for NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)]

NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)

Gene:
CEP152:centrosomal protein 152 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
HGVS:
  • NC_000015.10:g.48767448A>C
  • NG_027518.2:g.48699T>G
  • NM_001194998.2:c.2034T>GMANE SELECT
  • NM_014985.4:c.2034T>G
  • NP_001181927.1:p.Tyr678Ter
  • NP_055800.2:p.Tyr678Ter
  • NC_000015.9:g.49059645A>C
  • NG_027518.1:g.48699T>G
  • NM_001194998.1:c.2034T>G
  • NM_001194998.2:c.2034T>G
  • NM_014985.3:c.2034T>G
Protein change:
Y678*; TYR678TER
Links:
OMIM: 613529.0004; dbSNP: rs182018947
NCBI 1000 Genomes Browser:
rs182018947
Molecular consequence:
  • NM_001194998.2:c.2034T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014985.4:c.2034T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004925456Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 13, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, et al.

Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5.

PubMed [citation]
PMID:
21131973
PMCID:
PMC3430850

Details of each submission

From Ambry Genetics, SCV004925456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.2034T>G (p.Y678*) alteration, located in exon 16 (coding exon 15) of the CEP152 gene, consists of a T to G substitution at nucleotide position 2034. This changes the amino acid from a tyrosine (Y) to a stop codon at amino acid position 678. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This alteration has been reported in the compound heterozygous state with a second CEP152 alteration in a patient with clinical features of CEP152-related Seckel syndrome (Kalay, 2011). Based on the available evidence, this alteration is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024